Welcome to our journey
Welcome to this site for our child who has Angelman Syndrome.
There is also a national charity and parent support group for Angelman Syndrome in Ireland – www.angelman.ie
See more on links page and on Facebook. Its great to be able to ask everyday questions of other parents/carers.
Have you come to this website because you have recently had a child diagnosed with Angelman Syndrome or do you know someone else who has?
Our daughter, Boo, is now 16 and was diagnosed with Angelman Syndrome UPD the day before her second birthday. We live in Dublin, Ireland and having Boo has introduced us to a whole new world we knew nothing about before. More importantly we have also met other families in Ireland and children going through the same journey and that really helped.
This website is about Boo’s journey. We hope her story will encourage you and that this website will help you to get the support and positive encouragement we have experienced.
You are not the only Mum or Dad or Aunty who has that pit in the bottom of your tummy. Yes we are wrecked from lack of sleep and yes its not all happy days but hey its never dull. We have moved on so much its hard to imagine.
What exactly is Angelman Syndrome?
It is a disorder where chromosome 15 was effected resulting in developmental delay and some on-going issues.
Well, here’s the science bit. Angelman Syndrome (AS) is a rare genetic / neuro-developemental disorder named after Dr Harry Angelman who first described the syndrome in 1965.
The most common cause/form (1) is a deletion in the maternal chromosome 15 (in 70% of cases) but AS can be caused by (2) paternal UPD (uniparental disomy) in 2-3% of cases. (3) UBE3A mutation discovered in 1997 is the cause in 5% of cases and (4) imprinting defects are the cause in 2-5% of cases. In some cases of AS it is either hereditary or there is simply no known direct cause. And AS affects both boys and girls.
For our child with UPD this meant she was not walking or talking and was behind in development. In her case she ended up starting with three version of chromosome 15 and the cells knowing three does not work got rid of the Mum no. 15 resulting in two copies of Dad 15’s. A bit more unusual but that’s our girl.
Why Angelman as a diagnosis for our child?.
Well we started off asking questions on her development or rather the delay in it at about ten months. She had smiled, rolled over, sat all on time but was not doing other things. The first seven months had been a time of non stop crying due to acid reflux, and that led to no real sleep, so days and nights were long. She did not point, answer to her name but we knew hearing was not an issue. No hand clapping or sounds of DaDa, Ma Ma or anything really. Then the issue of not walking came up. Boo was a bum shuffler but no crawling really until later. As a third child in the family this did not stack up. Luckily at about a one year old the medics agreed to look further.
In summary, not walking and not talking were the big issues.
Angelman was not an obvious choice as she is not a typical case – as a two year old she did not have some of the more typical traits and was starting to get about. We now are wiser and realise that getting a diagnosis has been a great help.
Links
Facebook also have page for families through ASSERT – The UK family support group.
Assert – the Angelman Syndrome Support Education & Research Trust UK.
www.angelmanuk.org
The Hanen Centre have some great guidelines and tips for speech therapy and communication. They have an outline page ‘Better speech and hearing’ which may be of help. In particular see their section outlining the stage your child may be at.
FAST is the US Foundation for Angelman Syndrome Theraputics who look at the science side and clinical trials for treatments.
Dogs for the disabled – changed our lives when Drew and now Jingles joined our family.
Angelman Ireland 